DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
Source | Last Updated |
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DisGeNET | July 29, 2024 |
Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0684276 | Hypsarrhythmia | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
C0684276 | Hypsarrhythmia | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
C0684276 | Hypsarrhythmia | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
C0684276 | Hypsarrhythmia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
C0684276 | Hypsarrhythmia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
C0684276 | Hypsarrhythmia | GCK | 2645 | glucokinase | P35557 |
C0684276 | Hypsarrhythmia | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
C0684276 | Hypsarrhythmia | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
C0684276 | Hypsarrhythmia | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | ENO2 | 2026 | enolase 2 | P09104 |
C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C0684354 | Benign neoplasm of sweat gland | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
C0684516 | Benign bone neoplasm | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
C0685838 | Gonadal dysgenesis XX type deafness | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
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Last updated: August 19, 2024